Phenotypes associated with this allele

• Allele Symbol: Rr27^tm1.1Msb
• Allele Name: targeted mutation 1.1, Marisa S Bartolomei
• Allele ID: MGI:1930816
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Rr27^tm1.1Msb/Rr27^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3620113

Genotype
MGI:3620113

ht1

• Allelic Composition: Rr27^tm1.1Msb/Rr27⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

decreased body weight ( J:52162 )

• 93% of control weight when paternally inherited

increased body size ( J:52162 )

• approximately 17% larger in size when maternally inherited

cellular

abnormal imprinting ( J:52162 , J:105567 , J:106218 )

• when paternally inherited, the paternal H19 locus is derepressed and the paternally inherited Igf2 is repressed (J:52162)

• when maternally inherited, the maternal H19 gene is repressed and the Igf2 gene is activated to approximately 1/3 control level (J:52162)

• paternal inheritance results in hypomethylation of the H19 promoter region (J:52162)

• loss of paternal allele specific methylation (J:105567)

• embryonic methylation of the H19 promoter and 5' end is lost (J:106218)